Fig. 2
From: Whole exome sequencing in three families segregating a pediatric case of sarcoidosis
Parallel visualization of two gene variants identified in T1 by Integrative Genomics Viewer (IGV) (Broad Institute©) and Sanger Sequencing. a + b Confirmation of the de novo c.1912 T > G (c.1912A > C on reverse strand by WES) variant in the SPICE1 gene inherited by T1c (a + b), either on IGV (a) and Sanger sequence (b). c + d Confirmation of the homozygous c.2806A > G variant in the KNL1 (CASC5) gene inherited by T1c, either on IGV (c) and Sanger sequence (d). The IGV profiles show the absence of c.1912 T > G (SPICE1) in both T1p and T1 m parents (a) and the status of heterozygous carriers of T1p and T1 m for the c.2806A > G (KNL1) variant (c)